Submissions for variant NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=)

gnomAD frequency: 0.00001  dbSNP: rs1438433663

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001843193	SCV001349733	likely benign	Cardiac arrhythmia	2019-07-27	criteria provided, single submitter	clinical testing
Invitae	RCV001530096	SCV001620560	likely benign	not provided	2023-09-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001530096	SCV001944464	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348620	SCV002652087	likely benign	Cardiovascular phenotype	2021-01-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530096	SCV001744719	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701300	SCV001924362	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001530096	SCV001927661	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001530096	SCV001975674	likely benign	not provided		no assertion criteria provided	clinical testing